ClinVar Miner

Submissions for variant NM_017654.4(SAMD9):c.2159del (p.Asn720fs)

dbSNP: rs753146043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714858 SCV000845601 likely pathogenic MIRAGE syndrome 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV002532982 SCV002983428 uncertain significance not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn720Thrfs*35) in the SAMD9 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 870 amino acid(s) of the SAMD9 protein. This variant is present in population databases (rs753146043, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SAMD9-related conditions. ClinVar contains an entry for this variant (Variation ID: 587617). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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